CATEGORIES: CMT Update | Research

Sneak Peak of Fall Newsletter: CMT Research Study Survey

by | Sep 16, 2014 | 2 comments

greensboro

My name is Elizabeth Francisco and I am a graduate student from the Genetic Counseling program at the University of North Carolina Greensboro. I am inviting you to participate in a research study.  The goal of my study is to learn more about the experiences of people with Charcot-Marie-Tooth (CMT) with genetic counseling and genetic testing. Adults with CMT and parents or legal guardians of someone of any age who has a diagnosis of CMT are eligible to participate

If you decide to participate in this study, you will be asked to complete a brief anonymous online survey.  The survey will take about 10-15 minutes to complete.   You do NOT have to know what genetic counseling is to participate, as we are interested in hearing from all members of the Charcot-Marie-Tooth community.  Your participation in this study is completely voluntary and you can stop at any time by closing the survey.

We hope this research will help us to better understand what people with CMT think about genetic counseling and genetic testing, and to learn more about their experiences in receiving genetic services.  This information can be helpful in improving these services for patients in the future.

If you have any questions or would like more information about this study, please contact me or my faculty advisor, Nancy Callanan using the contact information provided below.

If you would like to participate please click on the link below to view the consent form and proceed to the survey.

https://uncg.qualtrics.com/SE/?SID=SV_8oFjoYiUKaQjJrf

Thank you for considering participating in this research study.

Sincerely,

Elizabeth Francisco
Genetic Counseling Student
MS Genetic Counseling Program
University of North Carolina at Greensboro
[email protected]

Nancy Callanan, MS, CGC.
Program Director and Clinical Professor
MS Genetic Counseling Program
University of North Carolina at Greensboro
[email protected]
(336) 256-0175

Learn more on this topic

Related Blog Posts

September is CMT Awareness Month

by | Aug 19, 2014 | | 4 Comments

CMT awareness month is an entire month dedicated to building awareness, raising funds and finding a cure. The Hereditary Neuropathy Foundation (HNF) has committed to spend 30 days in September hosting local and national events, launching fundraisers, and spreading the word about the effects of Charcot-Marie-Tooth disease

Quality of Life and CMT Research

by | Jul 7, 2014 | | 4 Comments

Did you know that 95% of clinical trials fail? There are multiple causes, most related to efficacy or safety, which obviously can be harmful and risky for patients. The risk-reward of enrolling in trials is a judgment call based on the devastating effects of disease related to quality of life (QoL) or life-threatening disease. With CMT, the risk-reward is more of a challenging question for many, as CMT in most cases is non-fatal.

Help us answer questions that your doctors and the CMT Research Community aren’t too sure about.

by | May 19, 2014 | | 0 Comments

Did you know that you can become part of a community in therapy development and further research for all forms of CMT and inherited neuropathies? The mission of the Global Registry for Inherited neuropathies (GRIN) is to collect clinical and genetic information from patients with ALL forms of Charcot-Marie-Tooth (CMT) and other related rare and ultra rare inherited neuropathies.

Hot off the press

by | Feb 28, 2014 | | 0 Comments

It seems like almost weekly there is another new publication on CMT with interesting basic biology. While an earlier “Hot off the press” highlighted the work of Cherry and co-workers at the University of Texas Southwestern Medical Center who showed show that neurons lacking a gene for rab7 result in neuropathy.

New Study on CMT Type 2B

by | Feb 12, 2014 | | 5 Comments

If we are to learn more about CMT and the effectiveness of rehabilitation it is worth asking the patient and their caregiver. A recent Italian study by Padua et al recently described a survey of CMT patients and caregivers and their perspectives and perceptions of rehabilitation efficacy and needs.

Allison Moore is going to be published!

by | Sep 6, 2013 | , | 0 Comments

HNF’s CSO (Chief Scientific Officer), Sean Ekins wrote a blog about his work with Allison Moore and her two “fighter Mom” friends Lori Sames and Jill Wood. He named his blog: “Rare disease heroes – Extraordinary collaborators we should be listening too.” Sean helped my friends and I write a paper called: “Multifaceted roles of ultra rare and rare disease patients/parents in drug discovery.” YES, Allison Moore is going to be published! It will be in Drug Discovery Today, soon. The link to the reprint is below.

Join the conversation

Leave a Comment

2 Comments

  1. Allison Turkezer
    Allison Turkezer on October 2, 2014 at 9:56 am

    I am interested in being a “guinea pig” for any and all CMT research. I am from a very large family that ALL have CMT2. My father is one of 12 children who all have it and they all had 5-6 children who have. Our family reunion looks like the Jerry Lewis Telethon..lol

    Allison Turkezer

    Reply

Submit a Comment

Your email address will not be published. Required fields are marked *

Newsletter

Join for notifications on events, campaigns, & news